NL
WES dyskeratosis congenita and aplastic anemia
This test is available for the following conditions:
- Conditions > Oncogenetics > Dyskeratosis congenita
Turnaround time
Regular: 2-3 months / Rapid: 15 working days
Method
- Whole exome sequencing (WES)
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed. This panel contains 17 genes.
Panel version:
DG 3.6
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA
CTC1 - cerebroretinal microangiopathy with calcifications and cysts
This test is available for the following conditions:
- Conditions > Skin > Dyskeratosis congenita
- Conditions > Gastric-Intestinal-Liver > Dyskeratosis congenita
- Conditions > Hematological, hereditary > Dyskeratosis congenita
- Conditions > Immunological, hereditary > Dyskeratosis congenita
- Conditions > Oncogenetics > Dyskeratosis congenita
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES dyskeratosis congenita and aplastic anemia (100.0% *)
- WES hereditary cancer (100.0% *)
- WES inherited bone marrow failure and/or predisposition to hematological malignancies (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES movement disorders (100.0% *)
- WES primary immunodeficiencies (100.0% *)
- WES skin disorders¹ (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
613129
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
DKC1 - dyskeratosis congenita, X-linked
This test is available for the following conditions:
- Conditions > Skin > Dyskeratosis congenita
- Conditions > Gastric-Intestinal-Liver > Dyskeratosis congenita
- Conditions > Hematological, hereditary > Dyskeratosis congenita
- Conditions > Immunological, hereditary > Dyskeratosis congenita
- Conditions > Oncogenetics > Dyskeratosis congenita
This product is also part of the following panels:
- WES dyskeratosis congenita and aplastic anemia (100.0% *)
- WES hereditary cancer (100.0% *)
- WES inherited bone marrow failure and/or predisposition to hematological malignancies (100.0% *)
- WES intellectual disability (100.0% *)
- WES liver disorders (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES primary immunodeficiencies (100.0% *)
- WES skin disorders¹ (100.0% *)
- WES vision disorders (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
300126
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
NHP2 - dyskeratosis congenita, autosomal recessive type 2
This test is available for the following conditions:
- Conditions > Skin > Dyskeratosis congenita
- Conditions > Gastric-Intestinal-Liver > Dyskeratosis congenita
- Conditions > Hematological, hereditary > Dyskeratosis congenita
- Conditions > Immunological, hereditary > Dyskeratosis congenita
- Conditions > Oncogenetics > Dyskeratosis congenita
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES dyskeratosis congenita and aplastic anemia (100.0% *)
- WES hereditary cancer (100.0% *)
- WES inherited bone marrow failure and/or predisposition to hematological malignancies (100.0% *)
- WES liver disorders (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES primary immunodeficiencies (100.0% *)
- WES skin disorders¹ (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
606470
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
NOP10 - dyskeratosis congenita, autosomal recessive type 1
This test is available for the following conditions:
- Conditions > Skin > Dyskeratosis congenita
- Conditions > Gastric-Intestinal-Liver > Dyskeratosis congenita
- Conditions > Hematological, hereditary > Dyskeratosis congenita
- Conditions > Immunological, hereditary > Dyskeratosis congenita
- Conditions > Oncogenetics > Dyskeratosis congenita
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES dyskeratosis congenita and aplastic anemia (100.0% *)
- WES hereditary cancer (100.0% *)
- WES inherited bone marrow failure and/or predisposition to hematological malignancies (100.0% *)
- WES liver disorders (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES primary immunodeficiencies (100.0% *)
- WES skin disorders¹ (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
606471
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
RTEL1 - dyskeratosis congenita, autosomal dominant type 4
This test is available for the following conditions:
- Conditions > Skin > Dyskeratosis congenita
- Conditions > Gastric-Intestinal-Liver > Dyskeratosis congenita
- Conditions > Hematological, hereditary > Dyskeratosis congenita
- Conditions > Immunological, hereditary > Dyskeratosis congenita
- Conditions > Oncogenetics > Dyskeratosis congenita
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES dyskeratosis congenita and aplastic anemia (100.0% *)
- WES hereditary cancer (100.0% *)
- WES inherited bone marrow failure and/or predisposition to hematological malignancies (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES primary immunodeficiencies (100.0% *)
- WES skin disorders¹ (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
608833
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
TERC - dyskeratosis congenita, autosomal dominant type 1
This test is available for the following conditions:
- Conditions > Skin > Dyskeratosis congenita
- Conditions > Gastric-Intestinal-Liver > Dyskeratosis congenita
- Conditions > Hematological, hereditary > Dyskeratosis congenita
- Conditions > Immunological, hereditary > Dyskeratosis congenita
- Conditions > Oncogenetics > Dyskeratosis congenita
This product is also part of the following panels:
- WES dyskeratosis congenita and aplastic anemia (% *)
- WES hereditary cancer (% *)
- WES inherited bone marrow failure and/or predisposition to hematological malignancies (% *)
- WES liver disorders (% *)
- WES Mendelian inherited disorders (% *)
- WES primary immunodeficiencies (% *)
- WES skin disorders¹ (% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
Please send both EDTA blood (DNA) and buccal swap (DNA) because of possible revertant mozaism in blood.
OMIM:
602322
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
TERT - dyskeratosis congenita, autosomal dominant type 2
This test is available for the following conditions:
- Conditions > Skin > Dyskeratosis congenita
- Conditions > Gastric-Intestinal-Liver > Dyskeratosis congenita
- Conditions > Hematological, hereditary > Dyskeratosis congenita
- Conditions > Immunological, hereditary > Dyskeratosis congenita
- Conditions > Oncogenetics > Dyskeratosis congenita
This product is also part of the following panels:
- panel Melanoma, extensive (CDKN2A, CDK4, MITF p.(Glu318Lys), BAP1, POT1, TERT promoter)¹
- panel Melanoma, extensive (CDKN2A, CDK4, MITF p.(Glu318Lys), BAP1, POT1, TERT promoter)¹
- WES dyskeratosis congenita and aplastic anemia (100.0% *)
- WES hereditary cancer (100.0% *)
- WES inherited bone marrow failure and/or predisposition to hematological malignancies (100.0% *)
- WES liver disorders (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES primary immunodeficiencies (100.0% *)
- WES skin disorders¹ (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
187270
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
TINF2 - dyskeratosis congenita, autosomal dominant type 3
This test is available for the following conditions:
- Conditions > Skin > Dyskeratosis congenita
- Conditions > Gastric-Intestinal-Liver > Dyskeratosis congenita
- Conditions > Hematological, hereditary > Dyskeratosis congenita
- Conditions > Immunological, hereditary > Dyskeratosis congenita
- Conditions > Oncogenetics > Dyskeratosis congenita
This product is also part of the following panels:
- WES dyskeratosis congenita and aplastic anemia (100.0% *)
- WES hereditary cancer (100.0% *)
- WES inherited bone marrow failure and/or predisposition to hematological malignancies (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES primary immunodeficiencies (100.0% *)
- WES skin disorders¹ (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
604319
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
WRAP53 - dyskeratosis congenita, autosomal recessive type 3
This test is available for the following conditions:
- Conditions > Skin > Dyskeratosis congenita
- Conditions > Gastric-Intestinal-Liver > Dyskeratosis congenita
- Conditions > Hematological, hereditary > Dyskeratosis congenita
- Conditions > Immunological, hereditary > Dyskeratosis congenita
- Conditions > Oncogenetics > Dyskeratosis congenita
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES dyskeratosis congenita and aplastic anemia (100.0% *)
- WES hereditary cancer (100.0% *)
- WES inherited bone marrow failure and/or predisposition to hematological malignancies (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES primary immunodeficiencies (100.0% *)
- WES skin disorders¹ (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
612661
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
